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Related Concept Videos

Prosopagnosia01:24

Prosopagnosia

Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
Association Areas of the Cortex01:21

Association Areas of the Cortex

Association areas are regions of the cerebral cortex that do not have a specific sensory or motor function. Instead, they integrate and interpret information from various sources to enable higher cognitive processes such as memory, learning, and decision-making. Some key association areas include the following:
Prefrontal Association Area: This area is located in the frontal lobe and is involved in planning, decision-making, and moderating social behavior. It connects with primary motor areas,...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Muscles of the Eye01:20

Muscles of the Eye

The muscles of the eye are sophisticated structures that control eye movement and focus, allowing for the precise and rapid adjustments necessary for vision. The human eye is controlled by ten muscles — six extraocular muscles, three intraocular muscles, and one primary eyelid retractor muscle.
Extraocular Muscles
The six extraocular muscles surround the eyeball and control its movements. They are responsible for a wide range of eye motions, including looking up, down, left, right, and rotating...
Cerebrospinal Fluid01:21

Cerebrospinal Fluid

Cerebrospinal fluid (CSF) is a colorless liquid that flows around the brain and the spinal cord, playing a vital role in the protection, support, and overall function of the central nervous system (CNS). CSF production, circulation, and absorption are tightly regulated processes essential for the brain and spinal cord to function properly.
CSF Production
CSF is produced mainly in the choroid plexus, a network of capillaries and ependymal cells located within the ventricular system of the brain.
Major Somatic Sensory Pathways01:28

Major Somatic Sensory Pathways

Sensory impulses related to touch, pressure, vibration, and proprioception from various body parts, such as the limbs, trunk, neck, and posterior head, travel to the cerebral cortex through the posterior column-medial lemniscus pathway. The pathway’s name derives from the two white-matter tracts that convey the impulses: the spinal cord's posterior column and the brainstem's medial lemniscus. First-order sensory neurons extend their axons into the spinal cord, forming the posterior columns...

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Related Experiment Video

Updated: May 18, 2026

Efficiently Recording the Eye-Hand Coordination to Incoordination Spectrum
07:30

Efficiently Recording the Eye-Hand Coordination to Incoordination Spectrum

Published on: March 21, 2019

Cerebro-oculo-facio-skeletal syndrome.

Muhammad Rafique1, Shumaila Zia

  • 1Department of Paediatrics, College of Medicine, King Khalid University, Abha, KSA. rafiquelhr@yahoo.com

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|September 18, 2012
PubMed
Summary

Cerebro-oculo-facio-skeletal syndrome (COFSS) is a rare neurodegenerative disorder. This case study details a Saudi infant with severe COFSS, highlighting brain atrophy and demyelination.

Area of Science:

  • Genetics and Neurology
  • Rare Diseases
  • Pediatric Neurodegenerative Disorders

Background:

  • Cerebro-oculo-facio-skeletal syndrome (COFSS) is an autosomal recessive neurodegenerative disorder.
  • Early identification and management are crucial for affected communities.

Observation:

  • A case of an 8-month-old Saudi infant with COFSS is presented.
  • The infant exhibited microcephaly, micrognathia, micro-ophthalmia, dysmorphic facial features, congenital contractures, and severe growth and developmental retardation.
  • Consanguineous parentage was noted.

Findings:

  • Brain MRI and MRS revealed severe cerebral atrophy and white matter hypo/demyelination.
  • Differential diagnoses including Cockayne syndrome, Pena-Shokier phenotype, and Neu-Lexova syndrome were discussed in relation to the observed clinical presentation.

Related Experiment Videos

Last Updated: May 18, 2026

Efficiently Recording the Eye-Hand Coordination to Incoordination Spectrum
07:30

Efficiently Recording the Eye-Hand Coordination to Incoordination Spectrum

Published on: March 21, 2019

Implications:

  • This case underscores the severe neurological manifestations of COFSS.
  • Emphasizes the importance of prenatal diagnosis for timely intervention and potential reduction of COFSS incidence.
  • Contributes to the understanding of rare genetic neurodegenerative disorders in pediatric populations.